Split (2)

train · 48.9k rows

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.

ID stringlengths 13 17	question stringlengths 88 1.13k	answer stringlengths 6 156	reference_sequence stringlengths 4.1k 4.1k	variant_sequence stringlengths 4.1k 4.1k
Task1_train_3100	This alteration occurs within gene PXDN (peroxidasin) located on Chromosome 2. Is it associated with a disease or is it a benign variant?	Pathogenic; Anterior segment dysgenesis 7	CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGG...	CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGG...
Task1_train_3101	This gene mutation involves PXDN (peroxidasin) on Chromosome 2. Is it associated with any clinical condition, or is it benign?	Pathogenic; Anterior segment dysgenesis 7	TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGAT...	TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGAT...
Task1_train_3102	A sequence alteration has been identified in MYT1L (myelin transcription factor 1 like) on Chromosome 2. Is it disease-inducing or harmless?	Pathogenic; Intellectual disability	ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCG...	ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCG...
Task1_train_3103	Here’s a variant in MYT1L (myelin transcription factor 1 like) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?	Pathogenic; Intellectual disability, autosomal dominant 39	CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCT...	CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCT...
Task1_train_3104	This variant affects the gene MYT1L (myelin transcription factor 1 like) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Intellectual disability, autosomal dominant 39	AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCT...	AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCT...
Task1_train_3105	With a mutation on Chromosome 2 in gene RNASEH1 (ribonuclease H1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGG...	GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGG...
Task1_train_3106	The gene COLEC11 (collectin subfamily member 11) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; 3MC syndrome 2	GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCA...	GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCA...
Task1_train_3107	A variant was discovered on Chromosome 2, affecting COLEC11 (collectin subfamily member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.	Pathogenic; not provided	GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCC...	GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCC...
Task1_train_3108	The gene SOX11 (SRY-box transcription factor 11), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCAC...	ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCAC...
Task1_train_3109	A genetic alteration is present in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCT...	CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCT...
Task1_train_3110	A variant was discovered in gene SOX11 (SRY-box transcription factor 11), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACG...	CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACG...
Task1_train_3111	This mutation occurs in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?	Pathogenic; not provided	CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGT...	CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGT...
Task1_train_3112	A variant has been detected on Chromosome 2 in SOX11 (SRY-box transcription factor 11). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCAC...	GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCAC...
Task1_train_3113	A variant on Chromosome 2 in gene SOX11 (SRY-box transcription factor 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?	Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCG...	TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCG...
Task1_train_3114	A variant affecting Chromosome 2, within the gene CPSF3 (cleavage and polyadenylation specific factor 3), has been observed. Determine if it's benign or associated with disease.	Pathogenic; not specified	ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTG...	ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTG...
Task1_train_3115	The gene CPSF3 (cleavage and polyadenylation specific factor 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCA...	TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCA...
Task1_train_3116	Given this variant in gene NBAS (NBAS subunit of NRZ tethering complex) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; not provided	ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATT...	ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATT...
Task1_train_3117	A variant found in Chromosome 2 affects NBAS (NBAS subunit of NRZ tethering complex). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Infantile liver failure syndrome 2	GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAA...	GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAA...
Task1_train_3118	This mutation occurs in LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346\| NBAS subunit of NRZ tethering complex) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAAT...	CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAAT...
Task1_train_3119	This variant impacts the gene LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346\| NBAS subunit of NRZ tethering complex) on Chromosome 2. Is the change likely to result in a pathogenic outcome?	Pathogenic; Infantile liver failure syndrome 2	CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAAT...	CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAAT...
Task1_train_3120	A variant affecting Chromosome 2, within the gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor\| MYCN opposite strand), has been observed. Determine if it's benign or associated with disease.	Pathogenic; MYCN-related disorder	TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGT...	TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGT...
Task1_train_3121	Given this context: Chromosome 2, gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor\| MYCN opposite strand) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Megalencephaly-polydactyly syndrome	TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGT...	TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGT...
Task1_train_3122	This sequence variant lies in MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?	Pathogenic; not provided	TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAAC...	TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAAC...
Task1_train_3123	This genomic variant is located on Chromosome 2, within the MYCN (MYCN proto-oncogene, bHLH transcription factor) gene. Can you determine its pathogenicity and name any linked disease?	Pathogenic; Feingold syndrome type 1	GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTG...	GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTG...
Task1_train_3124	Given this variant in gene MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Feingold syndrome type 1	AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGG...	AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGG...
Task1_train_3125	With a mutation on Chromosome 2 in gene MYCN (MYCN proto-oncogene, bHLH transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; Feingold syndrome	AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTT...	AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTT...
Task1_train_3126	The gene WDR35 (WD repeat domain 35), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Cranioectodermal dysplasia 2	GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTAT...	GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTAT...
Task1_train_3127	Gene WDR35 (WD repeat domain 35) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; Cranioectodermal dysplasia 2	TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTT...	TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTT...
Task1_train_3128	Mutation context: Chromosome 2, Gene WDR35 (WD repeat domain 35). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; Cranioectodermal dysplasia 2	AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTA...	AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTA...
Task1_train_3129	Consider a variant on Chromosome 2 in gene WDR35 (WD repeat domain 35). Determine its clinical classification and disease relevance.	Pathogenic; Short-rib thoracic dysplasia 7 with or without polydactyly	CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTG...	CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTG...
Task1_train_3130	Gene WDR35 (WD repeat domain 35) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; not provided	GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAA...	GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAA...
Task1_train_3131	This genomic variant is located on Chromosome 2, within the WDR35 (WD repeat domain 35) gene. Can you determine its pathogenicity and name any linked disease?	Pathogenic; Cranioectodermal dysplasia 2	GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAA...	GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAA...
Task1_train_3132	This sequence variant lies in WDR35 (WD repeat domain 35) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?	Pathogenic; WDR35-related disorder	GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAA...	GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAA...
Task1_train_3133	Given this variant in gene MATN3, WDR35-DT (matrilin 3\| WDR35 divergent transcript) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Spondyloepimetaphyseal dysplasia, matrilin-3 type	AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGA...	AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGA...
Task1_train_3134	A mutation on Chromosome 2 affecting MATN3 (matrilin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; not provided	TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTA...	TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTA...
Task1_train_3135	This sequence change occurs on Chromosome 2, altering MATN3 (matrilin 3). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Multiple epiphyseal dysplasia type 5	AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCT...	AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCT...
Task1_train_3136	Here’s a variant in MATN3 (matrilin 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?	Pathogenic; Multiple epiphyseal dysplasia type 5	GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTT...	GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTT...
Task1_train_3137	Located on Chromosome 2, this mutation impacts APOB (apolipoprotein B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Hypercholesterolemia, familial, 1	CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTA...	CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTA...
Task1_train_3138	A mutation in APOB (apolipoprotein B), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Cardiovascular phenotype	TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACC...	TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACC...
Task1_train_3139	A mutation on Chromosome 2 affecting APOB (apolipoprotein B) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Hypercholesterolemia, familial, 1	AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCT...	AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCT...